Canonical Allele Identifier: CA471507243
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 1667596
ClinVar RCV Id: RCV002195794
dbSNP Id: rs1060504912
MyVariant Identifiers: chr10:g.112572384C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812626C>A , CM000672.2:g.110812626C>A GRCh38
NC_000010.10:g.112572384C>A , CM000672.1:g.112572384C>A GRCh37
NC_000010.9:g.112562374C>A NCBI36
NG_021177.1:g.173230C>A , LRG_382:g.173230C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.2229C>A MANE Select ENSP00000358532.3:p.Pro743=
ENST00000369519.3:c.2229C>A ENSP00000358532.3:p.Pro743=
NM_001134363.2:c.2229C>A NP_001127835.2:p.Pro743=
XM_011539697.1:c.1845C>A XP_011537999.1:p.Pro615=
XM_017016103.2:c.2064C>A XP_016871592.1:p.Pro688=
XM_017016104.2:c.1845C>A XP_016871593.1:p.Pro615=
NM_001134363.3:c.2229C>A MANE Select NP_001127835.2:p.Pro743=